ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.169T>C (p.Ser57Pro)

dbSNP: rs2054323662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179521 SCV001344191 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-20 criteria provided, single submitter clinical testing This missense variant replaces serine with proline at codon 57 of the CHEK2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001179521 SCV002714132 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-28 criteria provided, single submitter clinical testing The p.S57P variant (also known as c.169T>C), located in coding exon 1 of the CHEK2 gene, results from a T to C substitution at nucleotide position 169. The serine at codon 57 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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